Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes

Table 1 Number of variants in each gene present in ExAC and gnomAD

MPS type	Gene	ExAC variants	gnomAD variants	Common	Retained variants**
MPS I	IDUA	1246	1439	680	2005
MPS II	IDS	300	920	259	961
MPS IIIA	SGSH	1188	1400	545	2043
MPS IIIB	NAGLU	640	805	397	1048
MPS IIIC	HGSNAT	598	1456	521	1533
MPS IIID	GNS	429	1116	404	1141
MPS IVA	GALNS	1390	2254	656	2988
MPS IVB	GLB1*	871	1322	564	1629
MPS VI	ARSB	407	1122	370	1159
MPS VII	GUSB	593	1067	519	1141
MPS IX	HYAL1	669	700	287	1082

ISSN: 1750-1172